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rubinstein taybi syndrome

Rubinstein-Taybi syndrome in a Saudi boy with distinct features

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Descrição
Background Rubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently angulated thumbs and halluces; and characteristic facial dysmorphism. Case presentation We report on a Saudi boy with RSTS Type 1 and the following distinct features: a midline notch of the upper lip, a bifid tip of the tongue, a midline groove of the lower lip, plump fingers with broad / flat fingertips, and brachydactyly. The child was found to be heterozygous in the CREBBP gene for a sequence variant designated c.4963del, which is predicted to result in premature protein termination p.Leu1655Cysfs*89. The child and his father were also found to be heterozygous in the EP300 gene for a sequence variant designated c.586A > G, which is predicted to result in the amino-acid substitution p.Ile196Val. Conclusion Our report expands the clinical spectrum of RSTS to include several distinct facial and limb features. The variant of the CREBBP gene is known to be causative of RSTS Type 1. The variant in the EP300 gene is benign since the father carried the same variant and exhibited no abnormalities. However, functional studies are required to investigate if this benign EP300 variant influences the phenotype in the presence of disease-causing CREBBP gene mutations.
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
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Rubinstein-Taybi syndrome in a Saudi boy with distinct features
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Rubinstein-Taybi syndrome in a Saudi boy with distinct features
rubinstein-taybi syndrome adults - Google Search
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Autism Spectrum Disorder
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
PDF] Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
The - The Rubinstein-Taybi Syndrome Children's Foundation
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Rubinstein-Taybi Syndrome Images — DermNet
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
DBMCI MDS : Formerly MDS Experts - RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated with deletions of the short arm of ch 16. Clinical Features: - Mental retardation - Broad thumbs
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Patient 1 showing a mild RTS variant (incomplete RTS). (A, B) Note
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting - Boycott - 2019 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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